jueves, 27 de julio de 2017

BMC Medical Genetics | Home page

Featured article: Rare CNV screening in ulcerative colitis

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Genome-wide rare copy number variants contributing to risk of ulcerative colitis are identified from this multi-step case control analysis. Three rare copy number variants were reproduced in independent follow-up sample sets from twenty four in the initial panel.

Featured case report: Novel mutation linked to MODY

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This case reports a novel heterozygous missense mutation in theHNF-1αgene in a family with members affected by maturity onset diabetes of the young (MODY). The family also showed increased susceptibility to type 2 diabetes. The authors conclude that the presence of type 2 diabetes should not detract from the possibility of MODY in patients with family history.